Long-Term Cholic Acid Treatment in a Patient with Zellweger Spectrum Disorder.

ABSTRACT: Zellweger spectrum disorders (ZSDs) are a subgroup of peroxisomal biogenesis disorders with a generalized defect in peroxisome function. Liver disease in ZSDs has been associated with the lack of peroxisomal β-oxidation of C₂₇-bile acid intermediates to form primary C₂₄-bile acids, which prevents normal physiologic feedback and leads to accumulation of hepatotoxic bile acid intermediates. Primary bile acid therapy, oral cholic acid (CA), as adjunctive treatment for ZSDs, restores physiologic feedback inhibition on bile acid synthesis and inhibits formation of hepatotoxic bile acid intermediates. Our patient is a Caucasian male diagnosed with moderately severe ZSD at age 5 months, and he received long-term CA therapy from age 16 months through 19 years old. CA treatmen

SUBMITTER: Heubi JE 

PROVIDER: S-EPMC6276768 | biostudies-literature | 2018 Sep-Dec

REPOSITORIES: biostudies-literature